Canonical Allele Identifier: CA2323500210

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650354_12650357delinsATTC , CM000681.2:g.12650354_12650357delinsATTC	GRCh38
NC_000019.9:g.12761168_12761171delinsATTC , CM000681.1:g.12761168_12761171delinsATTC	GRCh37
NC_000019.8:g.12622168_12622171delinsATTC	NCBI36
NG_008318.1:g.21421_21424delinsGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2047-135_2047-132delinsGAAT MANE Select	ENSP00000395473.2:n.2047-135_2047-132delinsGAAT
ENST00000221363.8:c.2044-135_2044-132delinsGAAT	ENSP00000221363.4:n.2044-135_2044-132delinsGAAT
ENST00000456935.6:c.2047-135_2047-132delinsGAAT	ENSP00000395473.2:n.2047-135_2047-132delinsGAAT
ENST00000466794.5:n.2637-135_2637-132delinsGAAT
NM_000528.3:c.2047-135_2047-132delinsGAAT	NP_000519.2:n.2047-135_2047-132delinsGAAT
NM_001173498.1:c.2044-135_2044-132delinsGAAT	NP_001166969.1:n.2044-135_2044-132delinsGAAT
XM_005259913.1:c.2050-135_2050-132delinsGAAT	XP_005259970.1:n.2050-135_2050-132delinsGAAT
XM_011528017.1:c.946-135_946-132delinsGAAT	XP_011526319.1:n.946-135_946-132delinsGAAT
XM_005259913.2:c.2050-135_2050-132delinsGAAT	XP_005259970.1:n.2050-135_2050-132delinsGAAT
XM_024451518.1:c.946-135_946-132delinsGAAT	XP_024307286.1:n.946-135_946-132delinsGAAT
NM_000528.4:c.2047-135_2047-132delinsGAAT MANE Select	NP_000519.2:n.2047-135_2047-132delinsGAAT
NM_001173498.2:c.2044-135_2044-132delinsGAAT	NP_001166969.1:n.2044-135_2044-132delinsGAAT